Int J Cardiol. 2013 Nov 20. pii: S0167-5273(13)01997-9. doi: 10.1016/j.ijcard.2013.11.025. [Epub ahead of print]
Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.
Watts GF1, Gidding S2, Wierzbicki AS3, Toth PP4, Alonso R5, Brown WV6, Bruckert E7, Defesche J8, Lin KK9, Livingston M10, Mata P11, Parhofer KG12, Raal FJ13, Santos RD14, Sijbrands EJ15, Simpson WG16, Sullivan DR17, Susekov AV18, Tomlinson B19, Wiegman A20, Yamashita S21, Kastelein JJ22.
Familial hypercholesterolaemia (FH) is a dominantly inherited disorder present from birth that markedly elevates plasma low-density lipoprotein (LDL) cholesterol and causes premature coronary heart disease. There are at least 20million people with FH worldwide, but the majority remain undetected and current treatment is often suboptimal. To address this major gap in coronary prevention we present, from an international perspective, consensus-based guidance on the care of FH. The guidance was generated from seminars and workshops held at an international symposium. The recommendations focus on the detection, diagnosis, assessment and management of FH in adults and children, and set guidelines for clinical purposes. They also refer to best practice for cascade screening and risk notifying and testing families for FH, including use of genetic testing. Guidance on treatment is based on risk stratification, management of non-cholesterol risk factors, and safe and effective use of LDL lowering therapies. Recommendations are given on lipoprotein apheresis. The use of emerging therapies for FH is also foreshadowed. This international guidance acknowledges evidence gaps, but aims to make the best use of contemporary practice and technology to achieve the best outcomes for the care of FH. It should accordingly be employed to inform clinical judgement and be adjusted for country-specific and local health care needs and resources.
Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.
Assessment, Diagnosis, Familial hypercholesterolaemia, Models of care, Screening, Treatment
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